Canonical Allele Identifier: CA1760939425

Gene: MCPH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6494914_6494915delinsTA , CM000670.2:g.6494914_6494915delinsTA	GRCh38
NC_000008.10:g.6352435_6352436delinsTA , CM000670.1:g.6352435_6352436delinsTA	GRCh37
NC_000008.9:g.6339843_6339844delinsTA	NCBI36
NG_016619.1:g.93323_93324delinsTA
NG_016619.2:g.93323_93324delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000519221.6:n.363-4938_363-4937delinsTA
ENST00000521129.2:c.184-4938_184-4937delinsTA	ENSP00000509664.1:n.184-4938_184-4937delinsTA
ENST00000521175.2:n.860-4938_860-4937delinsTA
ENST00000687324.1:n.1075-4938_1075-4937delinsTA
ENST00000687413.1:c.226-4938_226-4937delinsTA	ENSP00000510583.1:n.226-4938_226-4937delinsTA
ENST00000687720.1:c.*2085-4938_*2085-4937delinsTA	ENSP00000510728.1:n.*2085-4938_*2085-4937delinsTA
ENST00000688101.1:c.2294-4938_2294-4937delinsTA
ENST00000688388.1:c.*126-4938_*126-4937delinsTA	ENSP00000510092.1:n.*126-4938_*126-4937delinsTA
ENST00000688912.1:n.2148-4938_2148-4937delinsTA
ENST00000689148.1:n.1097-4938_1097-4937delinsTA
ENST00000689348.1:c.2137-4938_2137-4937delinsTA	ENSP00000509554.1:n.2137-4938_2137-4937delinsTA
ENST00000689633.1:c.1935+39662_1935+39663delinsTA	ENSP00000509054.1:n.1935+39662_1935+39663delinsTA
ENST00000689736.1:c.781-4938_781-4937delinsTA	ENSP00000509722.1:n.781-4938_781-4937delinsTA
ENST00000690159.1:c.*2416-4938_*2416-4937delinsTA	ENSP00000510482.1:n.*2416-4938_*2416-4937delinsTA
ENST00000690708.1:c.982-4938_982-4937delinsTA	ENSP00000510400.1:n.982-4938_982-4937delinsTA
ENST00000690826.1:c.2137-4938_2137-4937delinsTA	ENSP00000510536.1:n.2137-4938_2137-4937delinsTA
ENST00000691435.1:c.2137-4938_2137-4937delinsTA	ENSP00000510652.1:n.2137-4938_2137-4937delinsTA
ENST00000691655.1:c.*1074-4938_*1074-4937delinsTA	ENSP00000509652.1:n.*1074-4938_*1074-4937delinsTA
ENST00000692836.1:c.2137-4938_2137-4937delinsTA	ENSP00000509971.1:n.2137-4938_2137-4937delinsTA
ENST00000692938.1:c.2137-4938_2137-4937delinsTA	ENSP00000509072.1:n.2137-4938_2137-4937delinsTA
ENST00000693231.1:c.*1675+39662_*1675+39663delinsTA	ENSP00000510764.1:n.*1675+39662_*1675+39663delinsTA
ENST00000344683.10:c.2137-4938_2137-4937delinsTA MANE Select	ENSP00000342924.5:n.2137-4938_2137-4937delinsTA
ENST00000344683.9:c.2137-4938_2137-4937delinsTA	ENSP00000342924.5:n.2137-4938_2137-4937delinsTA
ENST00000519221.5:n.244-4938_244-4937delinsTA
ENST00000521129.1:n.295-4938_295-4937delinsTA
NM_024596.3:c.2137-4938_2137-4937delinsTA	NP_078872.2:n.2137-4938_2137-4937delinsTA
XM_011534755.1:c.2137-4938_2137-4937delinsTA	XP_011533057.1:n.2137-4938_2137-4937delinsTA
XM_011534756.1:c.2137-4938_2137-4937delinsTA	XP_011533058.1:n.2137-4938_2137-4937delinsTA
XM_011534757.1:c.2137-4938_2137-4937delinsTA	XP_011533059.1:n.2137-4938_2137-4937delinsTA
XM_011534758.1:c.2137-4938_2137-4937delinsTA	XP_011533060.1:n.2137-4938_2137-4937delinsTA
XM_011534759.1:c.2137-4938_2137-4937delinsTA	XP_011533061.1:n.2137-4938_2137-4937delinsTA
XM_011534760.1:c.1612-4938_1612-4937delinsTA	XP_011533062.1:n.1612-4938_1612-4937delinsTA
NM_001322042.1:c.2137-4938_2137-4937delinsTA	NP_001308971.1:n.2137-4938_2137-4937delinsTA
NM_001363979.1:c.2137-4938_2137-4937delinsTA	NP_001350908.1:n.2137-4938_2137-4937delinsTA
NM_001363980.1:c.1935+39662_1935+39663delinsTA	NP_001350909.1:n.1935+39662_1935+39663delinsTA
NM_024596.4:c.2137-4938_2137-4937delinsTA	NP_078872.2:n.2137-4938_2137-4937delinsTA
XM_011534755.3:c.2137-4938_2137-4937delinsTA	XP_011533057.1:n.2137-4938_2137-4937delinsTA
XM_011534756.3:c.2137-4938_2137-4937delinsTA	XP_011533058.1:n.2137-4938_2137-4937delinsTA
XM_011534757.3:c.2137-4938_2137-4937delinsTA	XP_011533059.1:n.2137-4938_2137-4937delinsTA
XM_011534758.3:c.2137-4938_2137-4937delinsTA	XP_011533060.1:n.2137-4938_2137-4937delinsTA
XM_011534759.3:c.2137-4938_2137-4937delinsTA	XP_011533061.1:n.2137-4938_2137-4937delinsTA
XM_011534760.2:c.1612-4938_1612-4937delinsTA	XP_011533062.1:n.1612-4938_1612-4937delinsTA
XM_017013829.2:c.2137-4938_2137-4937delinsTA	XP_016869318.1:n.2137-4938_2137-4937delinsTA
XM_017013831.2:c.1936-4938_1936-4937delinsTA	XP_016869320.1:n.1936-4938_1936-4937delinsTA
XM_017013832.2:c.1935+39662_1935+39663delinsTA	XP_016869321.1:n.1935+39662_1935+39663delinsTA
XM_017013833.2:c.2137-4938_2137-4937delinsTA	XP_016869322.1:n.2137-4938_2137-4937delinsTA
XR_001745596.2:n.2190-4938_2190-4937delinsTA
NM_024596.5:c.2137-4938_2137-4937delinsTA MANE Select	NP_078872.3:n.2137-4938_2137-4937delinsTA
NM_001322042.2:c.2137-4938_2137-4937delinsTA	NP_001308971.2:n.2137-4938_2137-4937delinsTA
NM_001363980.2:c.1935+39662_1935+39663delinsTA	NP_001350909.1:n.1935+39662_1935+39663delinsTA